人类腺苷脱氨酶基因第4外显子的错义突变导致严重联合免疫缺陷。 - Suppr

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超能文献

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.

作者信息

Atasoy U, Norby-Slycord C J, Markert M L

机构信息

Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.

出版信息

Hum Mol Genet. 1993 Aug;2(8):1307-8. doi: 10.1093/hmg/2.8.1307.

DOI:10.1093/hmg/2.8.1307

PMID:7691348

Abstract

摘要

相似文献

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.人类腺苷脱氨酶基因第4外显子的错义突变导致严重联合免疫缺陷。

Hum Mol Genet. 1993 Aug;2(8):1307-8. doi: 10.1093/hmg/2.8.1307.

A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.一名患有严重联合免疫缺陷且腺苷脱氨酶（ADA）mRNA和蛋白水平极低的儿童，其ADA基因第10外显子存在一个纯合的5个碱基对缺失。

Hum Mol Genet. 1993 Sep;2(9):1493-4. doi: 10.1093/hmg/2.9.1493.

Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.在两名腺苷脱氨酶严重联合免疫缺陷（ADA - SCID）患者中鉴定出两个新的错义突变（R156C和S291L），这两名患者对部分换血疗法的反应异常。

Hum Mutat. 1992;1(2):166-8. doi: 10.1002/humu.1380010214.

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.尽管5'剪接位点的不变第一个核苷酸发生突变，但仍能正确剪接：腺苷脱氨酶缺乏症患儿同胞不同临床表型的可能基础。

Am J Hum Genet. 1994 May;54(5):820-30.

A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA.内含子7的5'剪接区域中的一个点突变导致腺苷脱氨酶mRNA中外显子7缺失。

J Cell Biochem. 1993 Mar;51(3):322-5. doi: 10.1002/jcb.240510311.

Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).与新生儿期发病的腺苷脱氨酶缺陷型重症联合免疫缺陷症（ADA-SCID）相关的错义突变（G20R）的纯合性。

Clin Immunol Immunopathol. 1994 Feb;70(2):171-5. doi: 10.1006/clin.1994.1026.

Molecular basis of adenosine deaminase deficiency.腺苷脱氨酶缺乏症的分子基础。

Immunodeficiency. 1994;5(2):141-57.

Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.简短报告：肝功能障碍作为腺苷脱氨酶缺乏症的一种并发症。

N Engl J Med. 1996 May 23;334(21):1367-71. doi: 10.1056/NEJM199605233342104.

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.7例腺苷脱氨酶缺陷型联合免疫缺陷病迟发/延迟发病患者中的新型剪接、错义及缺失突变。基因型对表型的影响。

J Clin Invest. 1993 Nov;92(5):2291-302. doi: 10.1172/JCI116833.

Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).由于腺苷脱氨酶错义突变（Arg253Pro）纯合导致的严重程度降低的重症联合免疫缺陷。

Cell Immunol. 1993 Dec;152(2):383-93. doi: 10.1006/cimm.1993.1299.

引用本文的文献

SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.严重联合免疫缺陷病及其他低TREC免疫先天性缺陷——巴西经验

J Clin Immunol. 2022 Aug;42(6):1171-1192. doi: 10.1007/s10875-022-01275-9. Epub 2022 May 3.

Adenosine deaminase, not immune to a mechanistic rethink in central nervous system disorders?腺苷脱氨酶，在中枢神经系统疾病中是否无法避免机制上的再思考？

Histol Histopathol. 2022 Mar;37(3):189-212. doi: 10.14670/HH-18-404. Epub 2021 Dec 9.

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.腺苷脱氨酶缺乏症：基于29个突变等位基因表达活性的基因型-表型相关性

Am J Hum Genet. 1998 Oct;63(4):1049-59. doi: 10.1086/302054.

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